Disease relevance of Ichthyosiform Erythroderma, Congenital

• It was recently shown that mutations in the transglutaminase 1 (TGM1) gene may be associated with the clinical subtypes lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (CIE) [1].
• Two of the patients had ichthyosis vulgaris, two had non-bullous congenital ichthyosiform erythroderma and one had X-linked ichthyosis [2].

High impact information on Ichthyosiform Erythroderma, Congenital

• Netherton syndrome is an autosomal recessive multisystemic disorder characterized by congenital ichthyosiform erythroderma, hair shaft defects and atopy, caused by mutations within the human SPINK5 gene [3].
• It is defined by a triad of symptoms: congenital ichthyosiform erythroderma, trichorrhexis invaginata and atopy [4].
• Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby [5].
• BACKGROUND--Although n-alkanes accumulate in some disorders of cornification, recent studies using radioactive carbon 14 content by accelerator mass spectrometry point to an exogenous origin for alkanes in normal stratum corneum, and their derivation in congenital ichthyosiform erythroderma remains controversial [6].
• Oral retinoic acid as therapy for congenital ichthyosiform erythroderma [7].

Chemical compound and disease context of Ichthyosiform Erythroderma, Congenital

• Vitamin A acid in the local treatment of congenital ichthyosiform erythroderma [8].
• The congenital ichthyosiform erythrodermas have become readily treatable with an aromatic retinoid [9].

References